Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999651097625385 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM168220)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:145001031T>CN/A show variant in all transcripts   IGV
HGNC symbol PLEC
Ensembl transcript ID ENST00000398774
Genbank transcript ID NM_201381
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.3869A>G
cDNA.3943A>G
g.49872A>G
AA changes H1290R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1290
frameshift no
known variant Reference ID: rs55895668
databasehomozygous (C/C)heterozygousallele carriers
1000G7388611599
ExAC11616953521151

known disease mutation at this position, please check HGMD for details (HGMD ID CM168220)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1380.952
1.2590.957
(flanking)2.8740.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49877wt: 0.6827 / mu: 0.7429 (marginal change - not scored)wt: ACTACAGCGAGCTGA
mu: GCTACAGCGAGCTGA
 TACA|gcga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1290SVIQEYVDLRTHYSELTTLTSQYI
mutated  not conserved    1290SVIQEYVDLRTRYSELTTLTSQY
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000000388  1460SVIQEYVDLRTRYSELTTLTSQY
Fcatus  no alignment  ENSFCAG00000001046  n/a
Mmusculus  not conserved  ENSMUSG00000022565  1467SVIQEYVDLRTRYSELTTLTSQY
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000003715  1470NIIQEYVTLRTQYSELMTLTSQY
Drerio  not conserved  ENSDARG00000021987  1350NIIQEYVTLRTRYSELMTLTSQY
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11470REGIONGlobular 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13548 / 13548
position (AA) of stopcodon in wt / mu AA sequence 4516 / 4516
position of stopcodon in wt / mu cDNA 13622 / 13622
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 75 / 75
chromosome 8
strand -1
last intron/exon boundary 7404
theoretical NMD boundary in CDS 7279
length of CDS 13548
coding sequence (CDS) position 3869
cDNA position
(for ins/del: last normal base / first normal base)
3943
gDNA position
(for ins/del: last normal base / first normal base)
49872
chromosomal position
(for ins/del: last normal base / first normal base)
145001031
original gDNA sequence snippet GTACGTGGACCTGCGTACGCACTACAGCGAGCTGACCACAC
altered gDNA sequence snippet GTACGTGGACCTGCGTACGCGCTACAGCGAGCTGACCACAC
original cDNA sequence snippet GTACGTGGACCTGCGTACGCACTACAGCGAGCTGACCACAC
altered cDNA sequence snippet GTACGTGGACCTGCGTACGCGCTACAGCGAGCTGACCACAC
wildtype AA sequence MKIVPDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV LSGDSLPREK
GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL HFQISDIQVS
GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP LLIDMNKVYR
QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM PRVPDVQDGV
RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL KFKEMELPAK
EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK QLRSEFERLE
CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL DKADSMIRLL
FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ VAQVTLQSVQ
RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH QSIEEFRAKI
ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV AAATKELMWL
NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL LREDHPARPT
VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ EALRRKYSCD
RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP MRGRLPLLAV
CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN QEAQEAVTRL
EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ RQALHSLELH
YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC QRCISELKDI
RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR LSAEAEKVLA
LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE EVLRAHEEQL
KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER LQQRHGERDV
EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW LQDARRRQEQ
IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY ELQLVTYKAQ
LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR RMEEEERLAE
QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV RREEAAVDAQ
QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE ATERQRGGAE
GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK AEAEAAREKQ
RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR ASFAEKTAQL
ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL RLRLQAEEVA
QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE GTAQQRLAAE
QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA EMEVLLASKA
RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE DAARQRAEAE
RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE QAAQHKADIE
ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA ELELELGRIR
SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR QRKAALEEVE
RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE QELQQTLQQE
QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE EQAQARAQAQ
AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA QVEQELTTLR
LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK LKARIEAENR
ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA QQRALAEKML
KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ GFQRTLEAER
QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL ATQEKVTLVQ
TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE QLLQETQALQ
QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME QERQRLVASM
EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE EQHRAALAHS
EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG ILSAEELQRL
AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS PGTALILLEA
QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT GQQISLFQAM
QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV LADPSDDTKG
FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR DVFEKATVSA
PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV VEEQEQKGRL
CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG ANVIAGVWLE
EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV RAGLVGPEFH
EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG IVDPSKSHRV
PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD QLTGLSLLPL
SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF TAEQRQELLR
QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV LSRAQFEQLK
DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA TTAALLLEAQ
AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG STISLFQAMQ
KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL ADPSDDTKGF
FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE TRRAFEETQI
DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII IEIIEKTEII
RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA WCYLYGTGSV
AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL TVDEAVRKGL
VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA QLATGGIVDP
RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR RCRRDDGTGQ
LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT KNLQKFLEGT
SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG LKLTVEEAVR
MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL LEAQIATGGI
IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL QLMERCITDP
QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL IDHQTYLELS
EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY RAGTLSITEF
ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG ILDTETLEKV
SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD KIMVDRINLA
QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT PGRVPLDEAL
QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR LLEAAAQSTK
GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY SSSGYGRRYA
SGSSASLGGP ESAVA*
mutated AA sequence MKIVPDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV LSGDSLPREK
GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL HFQISDIQVS
GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP LLIDMNKVYR
QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM PRVPDVQDGV
RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL KFKEMELPAK
EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK QLRSEFERLE
CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL DKADSMIRLL
FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ VAQVTLQSVQ
RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH QSIEEFRAKI
ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV AAATKELMWL
NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL LREDHPARPT
VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ EALRRKYSCD
RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP MRGRLPLLAV
CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN QEAQEAVTRL
EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ RQALHSLELH
YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC QRCISELKDI
RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR LSAEAEKVLA
LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE EVLRAHEEQL
KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER LQQRHGERDV
EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW LQDARRRQEQ
IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY ELQLVTYKAQ
LEPVASPAKK PKVQSGSESV IQEYVDLRTR YSELTTLTSQ YIKFISETLR RMEEEERLAE
QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV RREEAAVDAQ
QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE ATERQRGGAE
GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK AEAEAAREKQ
RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR ASFAEKTAQL
ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL RLRLQAEEVA
QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE GTAQQRLAAE
QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA EMEVLLASKA
RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE DAARQRAEAE
RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE QAAQHKADIE
ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA ELELELGRIR
SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR QRKAALEEVE
RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE QELQQTLQQE
QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE EQAQARAQAQ
AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA QVEQELTTLR
LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK LKARIEAENR
ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA QQRALAEKML
KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ GFQRTLEAER
QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL ATQEKVTLVQ
TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE QLLQETQALQ
QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME QERQRLVASM
EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE EQHRAALAHS
EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG ILSAEELQRL
AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS PGTALILLEA
QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT GQQISLFQAM
QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV LADPSDDTKG
FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR DVFEKATVSA
PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV VEEQEQKGRL
CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG ANVIAGVWLE
EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV RAGLVGPEFH
EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG IVDPSKSHRV
PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD QLTGLSLLPL
SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF TAEQRQELLR
QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV LSRAQFEQLK
DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA TTAALLLEAQ
AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG STISLFQAMQ
KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL ADPSDDTKGF
FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE TRRAFEETQI
DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII IEIIEKTEII
RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA WCYLYGTGSV
AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL TVDEAVRKGL
VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA QLATGGIVDP
RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR RCRRDDGTGQ
LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT KNLQKFLEGT
SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG LKLTVEEAVR
MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL LEAQIATGGI
IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL QLMERCITDP
QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL IDHQTYLELS
EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY RAGTLSITEF
ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG ILDTETLEKV
SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD KIMVDRINLA
QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT PGRVPLDEAL
QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR LLEAAAQSTK
GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY SSSGYGRRYA
SGSSASLGGP ESAVA*
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project